ALBRIGHT HEREDITARY OSTEODYSTROPHY: A CASE REPORT

Sanjiv Kumar Sharma*, MBBS, Taruni Ngangbam, MD and Kuldeep Singh, MBBS

ABSTRACT

Albright hereditary osteodystrophy (AHO) is a syndrome characterized by short stature, obesity and brachydactyly especially of 4th and 5th digits, which are the phenotypic features of genetic mutation with features of pseudohypoparathyroidism (PHP) like hypocalcemia, hyperphosphatemia, increased Intact PTH (parathyroid hormone) and calcification in brain because of inability of the body to respond appropriately to parathormone. AHO when seen in association with resistance to parathormone (PTH), it is called PHP. Here is a case report of 15-year-old male patient presented with recurrent generalised tonic clonic seizure (GTCS) with classical features of AHO.

Keywords: Albright hereditary osteodystrophy (AHO), Brachydactyly, Pseudohypoparathyroidism.